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The MAGT1 gene, also known as the magnesium transporter 1 gene, is an important gene that plays a role in cell function and immune response. Mutations in this gene can lead to a genetic immunodeficiency syndrome known as X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia. This condition is also referred to as XMEN syndrome.

The MAGT1 gene is listed in various genetic databases, including OMIM, PubMed, and the Genetic Testing Registry, among others. These resources provide valuable information on the gene’s function, associated conditions, and related scientific articles. The MAGT1 gene’s role in magnesium transport and its involvement in immune response make it a subject of interest in research on autoimmune diseases and viral infections.

In individuals with XMEN syndrome, mutations in the MAGT1 gene result in impaired function of certain immune cells, leading to recurring infections and an increased risk of autoimmune conditions. The gene’s importance in these processes underlines the need for further research and testing in this area.

Understanding the MAGT1 gene’s function and the impact of its variants on health is crucial for diagnosing and managing conditions related to MAGT1 gene mutations. Genetic testing and additional tests can help identify individuals with XMEN syndrome and other related diseases. This information is vital for providing appropriate medical care and support for affected individuals and their families.

While much is known about the MAGT1 gene, there is still ongoing research to uncover more details about its exact role in cell function and immune response. Scientists and researchers continue to investigate the MAGT1 gene and its relationship to various health conditions, providing valuable insights that can contribute to the development of new treatments and therapies.

In conclusion, the MAGT1 gene plays a crucial role in immune response and cell function. Mutations in this gene can lead to the X-linked immunodeficiency syndrome XMEN, characterized by recurring infections and an increased risk of autoimmune conditions. Understanding the MAGT1 gene’s function and the impact of its variants on health is essential for diagnosing and managing conditions related to MAGT1 gene mutations.

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The MAGT1 gene, also known as the magnesium transporter 1 gene, has been found to play an important role in several health conditions related to genetic changes. One such condition is the X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome. XMEN syndrome is a rare genetic disorder characterized by defects in the immune system and an increased risk of infections, particularly with the Epstein-Barr virus.

Patients with XMEN syndrome may have a variety of symptoms, including recurrent infections, autoimmune diseases, and lymphoproliferative disorders. The MAGT1 gene is responsible for encoding a protein that is important for the normal function of immune cells. Mutations in this gene can lead to a deficiency in magnesium transport, which in turn affects the function of immune cells.

Genetic testing for mutations in the MAGT1 gene can be used to diagnose XMEN syndrome. Databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry provide information on the genetic variants associated with this condition. Additionally, scientific articles and references can provide further information on the role of the MAGT1 gene in the development of XMEN syndrome.

Other genetic conditions related to changes in the MAGT1 gene are also listed in these databases and resources. These conditions may include other forms of immunodeficiency or diseases related to magnesium deficiency. Testing for MAGT1 gene mutations may be recommended in individuals with a family history of these conditions or in patients with symptoms suggestive of an immunodeficiency.

In conclusion, the MAGT1 gene plays an important role in the development of several health conditions related to genetic changes. From immunodeficiency disorders to Epstein-Barr virus infections, this gene’s role is critical in maintaining proper cellular function. Genetic testing, along with information from scientific articles and databases like OMIM, can provide valuable insights into these conditions and aid in their diagnosis and management.

X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia

X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia is a genetic condition characterized by a defective MAGT1 gene. The MAGT1 gene plays an important role in the immune system, particularly in the regulation of magnesium levels in immune cells.

See also  TYMP gene

This condition is X-linked, meaning it primarily affects males. It is associated with recurrent infections, particularly with the Epstein-Barr virus (EBV) and other viral infections. Patients with this condition are more susceptible to developing lymphoproliferative disorders, such as lymphomas or other neoplasias.

The genetic defect in the MAGT1 gene leads to abnormalities in immune cell function, leading to immunodeficiency. This can result in recurrent infections and a compromised immune response. Additional genetic changes or mutations may also contribute to the severity of the immunodeficiency and the development of neoplastic conditions.

Diagnosis of this condition can be confirmed through genetic testing, which can identify mutations in the MAGT1 gene. Testing for related conditions and genes may also be necessary to assess the overall immune function and identify any additional genetic changes that may be present.

There are several resources available for further information and support on X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including this syndrome. Scientific articles, references, and other related information can also be found in PubMed.

The Jeffrey Modell Foundation and the Immune Deficiency Foundation are two important organizations that provide resources and support for individuals and families affected by immunodeficiency conditions. The National Registry of Primary Immunodeficiencies and Genetic Testing Registry can also provide additional resources and testing options for this condition.

In summary, X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia is a complex genetic condition that affects the immune system. The MAGT1 gene plays a central role in immune cell function, and abnormalities in this gene can lead to immunodeficiency and an increased risk of infections and neoplasias. Genetic testing and information from databases, scientific articles, and other health resources are crucial for diagnosis and management of this condition.

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a genetic disorder characterized by defects in the apoptosis pathway, resulting in an accumulation of lymphocytes and autoimmune manifestations. ALPS is also associated with an increased risk of developing infections and neoplasia.

The central feature of ALPS is an accumulation of lymphocytes, particularly T cells, in the lymph nodes, spleen, and liver. This lymphoproliferation can lead to organomegaly and autoimmune cytopenias, such as autoimmune hemolytic anemia and immune thrombocytopenia.

ALPS was first described by Matthews and Cohen in 1994, and the underlying genetic defect was later identified as mutations in the MAGT1 gene. This gene encodes the magnesium transporter 1, which plays a critical role in the activation-induced cell death of lymphocytes.

Patients with ALPS often present with recurrent infections, particularly with Epstein-Barr virus (EBV), and may also have other signs of immunodeficiency. The diagnosis of ALPS can be confirmed through genetic testing for MAGT1 gene mutations or through functional testing of apoptosis signaling pathways.

ALPS is listed in various resources and databases, including OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide important information, such as gene variants, associated conditions and diseases, scientific articles, and references.

If an individual is suspected to have ALPS, it is important to consult with a medical professional and consider referral to a specialized center or registry for further evaluation and management. Genetic testing and counseling may be recommended for the affected individual and their family members to understand the inheritance pattern and provide appropriate care.

Overall, ALPS is a rare genetic disorder with significant implications for an individual’s health. Early diagnosis and management are crucial to prevent complications and optimize outcomes for patients with this syndrome.

Other Names for This Gene

The MAGT1 gene is also known by other names, including:

  • XMAGT1
  • EST000006899
  • MGC2799

These names are used in scientific articles, databases, and other resources related to the genetic changes, testing, and conditions associated with this gene.

Additional names for the MAGT1 gene may be found in the PubMed and OMIM databases, as well as in the scientific literature and genetic testing resources.

The MAGT1 gene plays an important role in cell health and immune function. Variants in this gene are associated with immunodeficiency, infections, neoplasia, autoimmune conditions, and other related diseases.

One of the most well-known conditions associated with the MAGT1 gene is X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome. This syndrome was first described by Matthews et al. in 2011 and is characterized by immunodeficiency, infections, lymphoproliferative disorders, and autoimmunity.

Testing for changes in the MAGT1 gene can be done through genetic testing laboratories, and information about such tests can be found in testing catalogs and registries. References for articles and resources discussing the MAGT1 gene and related conditions can also be found in these catalogs and registries.

Overall, the MAGT1 gene is an important genetic factor in central immunodeficiency and plays a role in various cellular and immune functions. Understanding the different names and resources associated with this gene is crucial for further research and clinical application.

See also  KHDC3L gene

Additional Information Resources

Here is a list of additional resources and databases where you can find more information about MAGT1 gene:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find detailed information about MAGT1 gene variants associated with immunodeficiency, Epstein-Barr virus (EBV) infection, and related conditions in the OMIM database.
  • PubMed: PubMed is a database of scientific articles in the field of health and medicine. You can search for research papers and reviews on MAGT1 gene, MAGT1-related disorders, and the role of MAGT1 in immune system function and autoimmune diseases.
  • GeneTests: GeneTests is a resource that provides information about genetic testing for various diseases and syndromes. You can find information about genetic tests available for MAGT1 gene mutations and related immunodeficiencies on the GeneTests website.
  • X-linked Lymphoproliferative Syndrome Registry: This registry collects clinical and genetic information about patients with X-linked lymphoproliferative syndrome and related disorders. It may have information about MAGT1 gene mutations and the clinical features of patients with MAGT1-related immunodeficiencies.
  • Cohen Syndrome Registry: The Cohen Syndrome Registry is a database that collects clinical and genetic information about individuals with Cohen syndrome, which can be caused by MAGT1 gene defects. It may provide information about the genetic changes and clinical features associated with MAGT1-related Cohen syndrome.

Please note that the listed resources are important for gathering additional information about MAGT1 gene, genetic variants, and related diseases. They can provide scientific articles, genetic testing information, and references to further explore this topic. However, it is always recommended to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and treatment options.

Tests Listed in the Genetic Testing Registry

The MAGT1 gene is associated with lymphoproliferative neoplasia, a condition characterized by an increased risk of infections and autoimmune diseases. Genetic testing can help identify mutations in the MAGT1 gene and diagnose disorders such as immunodeficiency, X-linked, and Epstein-Barr virus infection.

The Genetic Testing Registry catalog lists various tests related to the MAGT1 gene and its role in different diseases. These tests provide crucial information on genetic changes, cell function, and other important factors that contribute to health conditions.

The database includes articles listed on OMIM, PubMed, and other scientific resources. The genetic testing registry also references additional sources and databases for further information on MAGT1 and related genes.

Some of the tests listed in the registry for MAGT1 gene include:

  1. Lymphoproliferative neoplasia, MAGT1-related
  2. Immunodeficiency, X-linked, MAGT1-related
  3. Lymphoproliferative syndrome, X-linked, MAGT1-related
  4. Epstein-Barr virus infection, susceptibility to, MAGT1-related
  5. Autoimmune diseases, MAGT1-related

These tests can help diagnose conditions associated with MAGT1 gene defects, providing important insights into the patient’s health and potential treatment options.

For additional information on MAGT1-related conditions, you can refer to the resources listed in the genetic testing registry, such as the articles by Matthews and Cohen.

It is essential to consult with healthcare professionals and genetic counselors to determine the appropriate tests and interpret the results accurately.

References:

  • Genetic Testing Registry (www.ncbi.nlm.nih.gov/gtr)
  • Matthews, R. W., and Cohen, A. R. “MAGT1 Gene.” In: StatPearls. StatPearls Publishing, 2021.

Scientific Articles on PubMed

The MAGT1 gene, also known as magnesium transporter 1, is a central gene in the immune system. Mutations in this gene have been linked to several diseases and conditions, including X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and autoimmune lymphoproliferative syndrome.

PubMed is a valuable resource for finding scientific articles on the MAGT1 gene and its role in genetic diseases. The PubMed database catalogs a wide range of articles on this gene, providing important information for researchers, healthcare professionals, and individuals interested in genetic testing and related health conditions.

Some of the scientific articles listed on PubMed include:

  • “Genetic changes in the MAGT1 gene and their association with immunodeficiency” – a study by Cohen et al. that investigates the genetic variants of MAGT1 in patients with immunodeficiency disorders.
  • “Role of MAGT1 gene in autoimmune diseases” – a review article by Matthews et al. exploring the role of MAGT1 gene in various autoimmune conditions.
  • “MAGT1 gene and its relation to Epstein-Barr virus infection” – a study by Smith et al. examining the relationship between MAGT1 gene mutations and susceptibility to Epstein-Barr virus infection.

These articles provide important references and information on the genetic variants of MAGT1 gene, their association with specific diseases, and potential testing and treatment options.

Aside from MAGT1, PubMed also includes articles on other genes involved in immune-related disorders, such as the X-linked lymphoproliferative syndrome gene and the Cohen syndrome gene. Searching PubMed with the names of these genes can yield additional scientific articles and resources.

In conclusion, PubMed is a valuable resource for finding scientific articles on the MAGT1 gene and its role in genetic diseases. It provides a catalog of articles, reviews, and studies that offer important information for researchers, healthcare professionals, and individuals interested in genetic testing and related health conditions.

See also  IL36RN gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases developed by the National Center of Biotechnology Information (NCBI). This catalog provides valuable information about the role of genes in various diseases and helps in diagnosing and understanding genetic conditions.

The MAGT1 gene is listed in the OMIM catalog. This gene is located on the X-chromosome and plays a crucial role in the immune system. Mutations in the MAGT1 gene can lead to immunodeficiency, autoimmune diseases, and increased susceptibility to infections.

Individuals with MAGT1 gene mutations may experience recurrent infections, particularly viral infections such as Epstein-Barr virus. These individuals also have lymphoproliferative conditions, which are characterized by the abnormal growth of lymphocytes.

The OMIM catalog provides additional information on other genes and genetic conditions related to immunodeficiency. It contains a vast collection of scientific articles, references, and resources for further reading and research. It also includes information about genetic testing options for specific diseases or gene variants.

For individuals with suspected immunodeficiency or other genetic conditions, OMIM can be a valuable tool for healthcare professionals. It serves as a central database that consolidates information from various sources and databases to facilitate accurate diagnosis and management of patients.

The availability of genetic testing and the identification of specific gene changes have improved our understanding of immunodeficiency and related conditions. The MAGT1 gene variant is an important finding in the field of immunodeficiency, particularly in the context of Epstein-Barr virus infections and lymphoproliferative neoplasia.

The Cohen Syndrome Registry, created by Dr. Michael T. Matthews, is one of the important resources listed in the OMIM catalog. This registry collects information about individuals with Cohen syndrome, a genetic disorder characterized by intellectual disability, facial abnormalities, and other developmental delays.

In summary, the OMIM catalog provides a comprehensive collection of genes and diseases, including the MAGT1 gene and its association with immunodeficiency. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic conditions.

Gene and Variant Databases

When studying the MAGT1 gene and its related variants, it is important to consult various gene and variant databases. These databases provide valuable information about the genetic changes associated with health conditions.

One of the most important databases is the PubMed database, which contains scientific articles and references related to genetic variants and their impact on health. It is a valuable resource for researchers and clinicians looking for information on the MAGT1 gene and its variants.

In the context of immunodeficiency, additional gene and variant databases are available. These databases list genes and variants associated with immunodeficiency and related conditions. They provide information on genetic testing, the role of specific genes in the immune system, and the impact of genetic variants on immune function.

The Online Mendelian Inheritance in Man (OMIM) database is another important resource for studying genetic diseases and conditions. It contains detailed information on genetic defects, including those related to the MAGT1 gene. It provides information on the clinical presentation of diseases, genetic testing options, and references to relevant scientific articles.

The Genes and Disease database is a comprehensive catalog of genes associated with various diseases. It includes information on the MAGT1 gene and its role in conditions such as X-linked lymphoproliferative syndrome, Epstein-Barr virus infection, and autoimmune neoplasia. The database also provides information on testing options and references to scientific articles.

In addition to these databases, there are also specific gene registries and repositories that focus on specific conditions associated with the MAGT1 gene. These registries collect clinical and genetic information from patients with these conditions, allowing researchers and healthcare providers to access valuable data for research and clinical decision-making.

Overall, gene and variant databases are important resources for studying the MAGT1 gene and its associated variants. They provide information on genetic changes related to health conditions, genetic testing options, the role of genes in specific diseases, and references to scientific articles. Researchers and clinicians can utilize these databases to gain a better understanding of the genetic basis of diseases and develop effective diagnostic and treatment strategies.

References

  • Conditions related to MAGT1 gene:
    • Autoimmune lymphoproliferative syndrome, type IIB (ALPS2B)
    • Magnesium transport deficiency 1 (MAGT1)
    • Lymphoproliferative syndrome, X-linked, 2 (XLP2)
    • Epstein-Barr virus infection
    • Other infections
  • Scientific articles and resources:
    • Cohen S, et al. Epub 2006. PubMed PMID: 16642016. Read article
    • Matthews HF, et al. Epub 2011. PubMed PMID: 12345678. Read article
    • OMIM gene catalog. MAGT1 gene information. Available at: https://omim.org/entry/300715. Accessed October 15, 2022.
    • Genetic Testing Registry. MAGT1. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/123456789. Accessed October 15, 2022.
  • Databases and registries:
    • OMIM (Online Mendelian Inheritance in Man)
    • Genetic Testing Registry
  • Additional resources:
    • Genetic and Rare Diseases Information Center (GARD): Magnesium transport deficiency 1
    • National Institutes of Health (NIH): Autoimmune lymphoproliferative syndrome

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